| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.73683324C>T | CA4290006 | BUD23,DNAJC30 | c.100G>A (p.Gly34Arg) n.300C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.73683324C>G | CA367828098 | BUD23,DNAJC30 | c.100G>C (p.Gly34Arg) n.300C>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.73683324C= | CA1717166428 | BUD23,DNAJC30 | c.100G= (p.Gly34=) n.300C= | dbSNP |